I fate taksa peng pakhat, a kut, ke, a nih loh leh a kut zungtang pawh ni se, an taksa dang nena khaikhin chuan a lian danglam hle tih i hre ngai em? A nih loh leh thil mak tak, an vunah mole lian tak emaw, thisen kalna kawng inzawmkhawm emaw ang chi i hmu ngai em? Nu leh pa tu pawhin hetiang thil an hmuh hian an lungkham hi thil pangngai tak a ni. Vawiin hian heng thil thleng thei tur thil awm lo tak tak pawl kan sawi dawn a ni. A hming chu PROS, a nih loh leh PIK3CA-Related Overgrowth Spectrum tih a ni.
PROS leh PIK3CA hi eng nge a nih chiang takin i hrethiam ang u.
A hmasa berah chuan PROS hi natna pakhat chauh a ni lo. Condition hrang hrang spectrum a ni. Heng dinhmun zawng zawng hian thil pakhat a inang vek a ni. Chu chu taksa peng thenkhat chu a lian lutuk (overgrowth) emaw, a pianzia pangngai lo takah a lo thang lian emaw tihna a ni.
Tunah chuan hetiang thil hi engvanga lo awm nge tih i lo en ang u. Hei hi a chhan ber chu kan taksaa `PIK3CA` an tih gene-a inthlak danglamna, chu chu mutation a ni.
A awlsam zawngin kan taksa hi factory lian tak ang a ni. He factory chhunga thil awm zawng zawng hi dik taka tih a ngai tih thupek set a awm. `PIK3CA` hi chutiang thupek pe thei gene pawimawh tak a ni. Kan cell-te hnena, "Okay, tunah chuan in inthen tawh," "Tunah chuan i lo thang lian tawh," "Okay, tunah chuan i hun a tawp tawh, thi rawh," titu a ni.
Mahse, he `PIK3CA` gene instruction book-a lehkha pakhat a dik lo a nih chuan, chu chu mutation a awm a nih chuan, chu cell-te thuchah dawn chu a buaithlak a ni. Tichuan cell thenkhat chu an inthen rang lutuk a, a nih loh leh an thih tur hunah an thi lo. Chu chu chu cell awmna hmunah, chu chu vun, thisen kalna kawng, ruh, thau tissue leh thluak ang chi hmunah te, a tlangpuiin a lo thang lian lutuk tih kan hmuh hian a ni
Hetah hian thil pawimawh tak pakhat i hriat reng tur a awm. PROS hi nu leh pa atanga fate hnena kai theih natna a ni lo. Chumi awmzia chu he natna hi i neih chuan i fain a vei lovang a, i fate zinga pakhatin a neih chuan naupang dangin an vei lo ang. He genetic change hi naupang taksa cell tinah a thleng lo va, cell thenkhatah chauh a awm thin. Chuvangin hei hi a tul lovah hlau suh.
PROS hnuaia awm damdawi lam dinhmun hrang hrang
A châng chuan doctor-te chuan PROS hmangin natna pakhat chu direct-in an hmuchhuak ang. Hun dangah chuan PROS umbrella hnuaia awm medical condition (syndrome) bik hming an sawi ang. Chung zinga ṭhenkhat chu a hnuaia table-ah hian tarlan a ni.
| Natna hming (Syndrome) . | A langsar ber ber leh a sawifiahna |
|---|---|
| Fibroadipose natna (fibroadipose) atanga lo chhuak a ni | Hetiang dinhmunah hian thau tissue, fibrous tissue emaw thisen kalna kawng emaw a lo thang tam lutuk hian taksa peng emaw taksa peng dang emaw ah lump ang chi a lo piang thin. Hun kal zelah hengte hian an lo thang lian thei a, kal leh che vel a tibuai thei bawk. |
| CLOVES syndrome tih hi a ni | A hming hi a natna lan chhuah dan hawrawp hmasa ber atanga lak a ni. C - Congenital (pian tirh atanga awm), L - Lipomatous (thau nena inzawm - naupang tam tak chuan thau lump ang chi thil an hmu thei), O - Overgrowth (thau lutuk), V - Vascular malformations (thisen kalna kawng dik lo - pianpui chhinchhiahna, spider veins ang chi), E - Epidermal nevus (vunah mole chi khat), S - Spinal/Skeletal (spinal-a harsatna awm emaw ruh emaw - e.g. hnungzang na). |
| Megalencephaly-capillary malformation (MCAP) natna hi a awm a, hei hi a natna a ni | Thluak, thisen kalna kawng leh hmêl lan dân te hi a lo ṭhang lian lutuk a. Heng naupangte hian an thanlenna a tlai thei a, kut zungtang pianzia pawh a danglam thei bawk. |
| Hemihyperplasia-multiple lipomatosis (HHML) natna a ni | Kut leh ke thanna a nghawng fo thin. Taksa hmun hrang hrangah vun hnuaiah zawi zawiin a lo thang lian a, natna nei lo fatty tumor (lipomas) te hi taksa peng hrang hrangah a lo awm a, a bik takin hnungzang, ke ruh, ke leh ke leh kut zungtang te hi a lo awm thin. |
| Hemimegalencephaly natna a ni | Hetiang dinhmunah hian thluak pumpui emaw, thluak chanve emaw chu a tlangpui aia lian a lo ni ta a ni. Heng naupangte hian seizure, paralysis, leh hmasawnna tlai te an nei thei a ni. |
| Hmaiah hian lipomatosis a awm | Hmai hmun thenkhatah natna nei lovin a hring emaw, a lo thang lian emaw. Hei hi lu sir khatah chauh a awm tlangpui. A châng chuan lei hmun ṭhenkhat a lian thei a, ruh leh ha a nghawng thei bawk. |
Hei hi eng enkawlna nge ni?
PROS damdawi hi a la awm lo. Mahse, he natna leh a natna lan chhuah dan hi enkawl dan kawng tam tak a awm.
I fa enkawlna tur dik ber chu i doctor-in a rel ang. I fa dinhmun uluk taka a enfiah hnuah leh specialist hrang hrang (e.g., surgeon, neurologist) te nena inrawn hnuah heng thutlukna te hi a siam ang. Enkawl dan tlangpui thenkhat chu hetiang hi a ni:
- Surgery: Tissue lo thang lian lutuk chu paih chhuah nan surgery neih a tha thei a, a bik takin a lo thang lian hian i fate kal theihna emaw, nitin thil tih theihna emaw a tibuai a, thluak a pressure a siam a, scoliosis ang chi dinhmun siamthat nan a ngai a nih chuan.
- Damdawi: I doctor chuan natna lan chhuahna chiang tak, seizures ang chi control nan damdawi a pe thei ang. PIK3CA gene hnathawh tur target-tu damdawi thar chungchangah pawh zirchianna kalpui mek a ni.
Ka fa hmalam hun chu eng ang nge ni ang?
Hei hi nu leh pa tu pawhin an ngaihtuah ber leh an hlauh ber pakhat a ni. PROS hi dam chhung zawnga dinhmun a ni. Mi tin a natna lan chhuah dan a inang lo hle a, chutiang chuan naupang hmalam hun pawh a inang lo thei hle.
Chumi awmzia chu naupang thenkhat chu nghawng lian tham nei lovin nun pangngai an hmang thei tihna a ni. Mi dangte chuan, a bik takin thluak a nghawng chuan zir dan inang lo leh hmasawnna tlai an tawk thei.
Tin, PROS vei thenkhat chuan cancer vei theihna chance engemaw chen an nei tih hmuhchhuah a ni bawk a, a chhan chu he PIK3CA gene mutation tho hi PROS nei lote cancer cell-ah pawh hmuh a ni bawk.
Hei hi a tul lovah hlau suh. A pawimawh ber chu he risk chungchang hi doctor nen zalen taka sawiho hi a ni. Tichuan, a hun takah test tulte chu i ti thei ang a, chutiang dinhmun thlen theihna tur a awm leh awm loh i en thei ang. I doctor chuan i fa dinhmun a enfiah reng ang a, a tul angin kaihhruaina a pe bawk ang.
Take-Home Thuchah a ni
- PROS hi gene `PIK3CA` a mutation avanga lo awm condition group a ni. Hei hi nu leh pa sual vang a ni lo.
- Hei hi thlahtu natna a ni lo. I fa pakhatin a neih vang mai mai chuan fa dangte pawhin an nei dawn tihna a ni lo.
- Naupang tinah natna lan chhuah dan a inang lo thei hle. Ṭhenkhat chuan nghawng na lo tak tak an nei thei a, ṭhenkhat erawh chuan harsatna lian tak an nei thei thung.
- PROS damdawi awm lo mahse, a natna lan chhuah dan chu operation leh damdawi hmangin a enkawl tha hle.
- I fa dinhmun, enkawl dan leh hmalam hun chungchanga i ngaihtuahna emaw, hlauhna emaw i neih apiang chu i doctor nen zalen tak leh mumal taka inbiakna neih a pawimawh hle.
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